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Comprehensive Cardiac NGS Panel

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Comprehensive Cardiac NGS Panel

Key Information

Lab:

Molecular

TAT:

8 weeks

Price:

$3,500

CPT Code(s):

81413

Test Code:

DCAR

Order Form

Comprehensive Cardiac NGS Panel

The Comprehensive Cardiac NGS Panel is a 125-gene panel intended for patients with a diagnosis or clinical suspicion of an inherited cardiac disorder.

A2ML1, ABCC9, ACADVL, ACTC1, ACTN2, AGL, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BAG5, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM3, CALM2, CASQ2, CAV3, CBL, CDH2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL1, FHOD3, FKRP, FKTN, FLII, FLNC, GAA, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, LMOD2, MAP2K1, MAP2K2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYLK3, MYOZ2, MYPN, MYZAP, NEBL, NEXN, NKX2-5, NRAP, NRAS, PDLIM3, PKP2, PLEKHM2, PLN, PPA2, PPP1R13L, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, RPL3L, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SHOC2, SLC22A5, SLMAP, SNTA1, SOS1, TAFAZZIN, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL

  • TAFFAZZIN was previously TAZ

Agenesis of corpus callosum\, cardiac\, ocular\, and genital syndrome, Alstrom syndrome, Andersen syndrome, Arrhythmogenic cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Atrial septal defect, Barth syndrome, Brugada syndrome, Cantú syndrome, Cardiac arrhythmia, Cardiac conduction disease, Cardio-facio-cutaneous syndrome, Catecholaminergic polymorphic ventricular tachycardia, Combined oxidative phosphorylation deficiency, Congenital disorders of glycosylation, Conotruncal heart malformations, Costello syndrome, Creatine phosphokinase, Danon disease, Dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, Fabry disease, Familial atrial fibrillation, Glycogen storage disease, Hypertrophic cardiomyopathy, Hypoplastic left heart syndrome, Hypothyroidism, Idiopathic dilated cardiomyopathy, Jervell and Lange-Nielsen syndrome, Laing distal myopathy, Left ventricular noncompaction, LEOPARD syndrome, Limb-girdle muscular dystrophy, Loeys-Dietz syndrome, Long QT syndrome, Mitochondrial complex V deficiency, Muscular dystrophy-dystroglycanopathy, Myopathy, Naxos disease, Noonan syndrome, Primary carnitine deficiency, Restrictive cardiomyopathy, Rippling muscle disease, Scapuloperoneal myopathy, Sick sinus syndrome, Sudden cardiac failure, Sudden infant death syndrome, Systemic primary carnitine deficiency, Tetralogy of Fallot, Timothy syndrome, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) deficiency

Clinical Information

The comprehensive panel consists of 125 genes that are associated with a variety of structural abnormalities, arrhythmias, and syndromic presentations. Cardiomyopathies often present later in life and may be genetic or related to lifestyle factors or other health issues. Signs and symptoms of dilated cardiomyopathy may include congestive heart failure, fatigue, and shortness of breath. Arrhythmias are also common, and thrombotic events are more prevalent. Individuals with hypertrophic cardiomyopathy may be asymptomatic or exhibit with a wide range of severity, even within the same family. Common features include shortness of breath and chest pain, and these findings can occur at younger ages than dilated forms.

These disorders can be inherited as autosomal recessive, autosomal dominant, X-linked recessive, or X-linked dominant conditions. However, the inheritance pattern for some of these conditions is uncertain, and many of them exhibit incomplete penetrance.

Technical Information

This panel is performed by Next Generation Sequencing and covers the coding regions of the listed genes and the flanking intronic sequences. Promoter, 3′ untranslated sequences, and deep intronic sequences are also covered, but only known disease-causing variants in these regions will be reported. Variants identified on the panel are confirmed with Sanger sequencing if they do not meet certain quality thresholds.

Large deletions and duplications (CNVs) affecting the genes of the panel can be detected; however, due to defined settings in the analysis software, CNVs smaller than 2-kb may not be identified (for example, some small exonic level copy number changes may not be identified). Please note that certain types of genetic alterations including trinucleotide repeat expansions, methylation abnormalities, and balanced rearrangements (e.g., inversions, reciprocal translocations) may not be detected by the current analysis. Only truncating variants in the TTN gene are reported.

Specimen Requirements

  • The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Blood and saliva kits are available by request.
  • Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
  • If saliva is submitted, and the extracted DNA is below quality control, then you will be contacted to submit a blood sample or the panel can be completed on an exome backbone. Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

  • The blood specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
  • Extracted DNA should be sent at room temperature via overnight delivery.
  • Saliva is stable at room temperature and can be delivered via overnight or ground shipping.

Associated Tests

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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